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Study Demonstrates Feasibility of Therapeutic Gene Delivery for Inherited Retinal Degeneration in Children

New Rochelle, NY, September 26, 2016—Researchers have demonstrated the ability to deliver a fully functional copy of the CLN3 gene to stem cells of patients with juvenile NCL, an inherited neurodegenerative disease in which a mutation in the CLN3 gene causes early-onset severe central vision loss. The gene therapy restored production of CLN3 protein in the stem cell-derived retinal neurons, as described in an article in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Human Gene Therapy website until October 31, 2016.

The article entitled "Using Patient-Specific Induced Pluripotent Stem Cells and Wild-type Mice to Develop a Gene Augmentation-based Strategy to Treat CLN3-associated Retinal Degeneration" is part of a special joint issue on stem cell gene therapy in Human Gene Therapy and Stem Cells & Development guest edited by Luigi Naldini, MD, Scientific Director, San Raffaele Telethon Institute for Gene Therapy, Milan, Italy.  A special "upside-down" print issue will be distributed at ESGCT/ISSCR Florence 2016 in October.
Luke Wiley, Budd Tucker, and coauthors from University of Iowa, Iowa City, describe the gene augmen-tation method they developed using an adeno-associated virus (AAV2) vector carrying the full-length cod-ing sequence of human CLN3 to deliver the gene to induced pluripotent stem cells (iPSC) derived from patients' fibroblasts. The researchers also demonstrate the safety of AAV2-CLN3, as it produced no toxicity when injected into the retinas of mice. The authors propose that these results serve as proof of principle to support initiation of a clinical trial using AAV-mediated gene augmentation to treat children with CLN3-associated retinal degeneration.
“There are more than 20 distinct genetic diseases that cause blindness. Prior clinical successes with gene therapy for one of these diseases has raised hopes for patients and families affected by other such diseases, ” says Editor-in-Chief Terence R. Flotte, MD, Celia and Isaac Haidak Professor of Medical Education and Dean, Provost, and Executive Deputy Chancellor, University of Massachusetts Medical School, Worcester, MA. “This pivotal work from the group at the University of Iowa has shown that one of the most severe degenerative diseases affecting the retina, juvenile NCL, may also be treatable with gene therapy.”
About the Journal
Human Gene Therapy, the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies, is an authoritative peer-reviewed journal published monthly in print and online. Led by Editor-in-Chief Terence R. Flotte, MD, Celia and Isaac Haidak Professor of Medical Education and Dean, Provost, and Executive Deputy Chancellor, University of Massachusetts Medical School, Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans. Related topics include improvements in vector development, delivery systems, and animal models, particularly in the areas of cancer, heart disease, viral disease, genetic disease, and neurological disease, as well as ethical, legal, and regulatory issues related to the gene transfer in humans. Its companion journals, Human Gene Therapy Methods, published bimonthly,  focuses on the application of gene therapy to product testing and development, and Human Gene Therapy Clinical Development, published quarterly, features data relevant to the regulatory review and commercial development of cell and gene therapy products. Tables of contents for all three publications and a free sample issue may be viewed on the Human Gene Therapy website.
About the Publisher
Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Nucleic Acid Therapeutics, Tissue Engineering, Stem Cells and Development, and Cellular Reprogramming. Its biotechnology trade magazine, GEN (Genetic Engineering & Biotechnology News), was the first in its field and is today the industry’s most widely read publication worldwide. A complete list of the firm’s 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.